Departments of Pediatrics and Immunology, Duke University Medical Center, Durham, NC 27710, USA.
Bone Marrow Transplant. 2013 Aug;48(8):1050-5. doi: 10.1038/bmt.2013.6. Epub 2013 Feb 11.
SCID is a fatal syndrome caused by mutations in at least 13 different genes. It is characterized by the absence of T cells. Immune reconstitution can be achieved through nonablative related donor BMT. However, the first transplant may not provide sufficient immunity. In these cases, booster transplants may be helpful. A prospective/retrospective study was conducted of 49 SCID patients (28.7% of 171 SCIDs transplanted over 30 years) who had received booster transplants to define the long-term outcome, factors contributing to a need for a booster and factors that predicted success. Of the 49 patients, 31 (63%) are alive for up to 28 years. Age at initial transplantation was found to have a significant effect on outcome (mean of 194 days old for patients currently alive, versus a mean of 273 days old for those now deceased, P=0.0401). Persistent viral infection was present in most deceased booster patients. In several patients, the use of two parents as sequential donors resulted in striking T-and B-cell immune reconstitution. A majority of the patients alive today have normal or adequate T-cell function and are healthy. Nonablative booster BMT can be lifesaving for SCID.
SCID 是一种致命的综合征，由至少 13 种不同基因的突变引起。其特征是缺乏 T 细胞。非清髓性相关供体 BMT 可实现免疫重建。然而，首次移植可能无法提供足够的免疫力。在这些情况下，增强移植可能会有所帮助。对 49 例 SCID 患者（30 年来接受过增强移植的 171 例 SCID 患者中的 28.7%）进行了前瞻性/回顾性研究，以确定长期结果、需要增强的因素以及预测成功的因素。在 49 例患者中，31 例（63%）存活长达 28 年。初次移植时的年龄对结果有显著影响（目前存活患者的平均年龄为 194 天，而目前死亡患者的平均年龄为 273 天，P=0.0401）。大多数死亡的增强患者存在持续性病毒感染。在一些患者中，使用两个父母作为连续供体导致明显的 T 和 B 细胞免疫重建。今天存活的大多数患者的 T 细胞功能正常或足够，并且身体健康。非清髓性增强 BMT 可挽救 SCID 患者的生命。
